Our research aim is to advance therapeutic diagnostics through an understanding of basic biology while incorporating genomic medicine. Our overall goal is to increase the number of patients that can benefit from targeted treatment. 

• Breast Cancer genes database – Aims to augment the comprehensive nature of our newly published curated breast cancer genes (cbcg.dk) database. This will expedite clinical diagnostics and support the ongoing efforts in managing breast cancer etiology.

• New Breast Cancer genes– Aims to identify novel breast cancer genes among young breast cancer patients, thereby improving future diagnostics and treatment for these vulnerable cancer patients. The projects utilize both germline and somatic high throughput sequencing data along with a broad range of functional assays. 

• Classification of Variant of Uncertain Significance (VUS) – Aims to identify the pathogenicity of VUS, thereby broadening the potential of personalized medicine. VUS's pose a major challenge for clinical management and genetic counseling, so we established a CRISPR based platform to re-classify them to support diagnostics. 

• Homologous Recombination Deficiency (HRD) testing & PARPi sensitivity – Aims to optimize and benchmark our own Laboratory Developmental Test (LDT) to estimate HRD. This will enable the access of PARPi for a greater number of HRD patients across different types of cancer. 

• Predictive value of molecular subtypes – Aims to identify the predictive and prognostic value of different breast cancer molecular subtypes, thereby enabling expedited precision medicine.

• CRISPR genome editing therapy for rare disorders – Aims to establish a transferable CRISPR genome editing framework for treating severe monogenic rare diseases, spanning variant characterization, base and prime editing strategy design, functional rescue, and preclinical safety assessment. By developing standardized and reproducible workflows, the project lays the foundation for future patient-tailored genome editing therapies.

Funding

• Novo Nordisk Fonden

• Neye-fonden

• AstraZeneca

• Kræftens Bekæmpelse

Researchers

Senior Researchers

• Luca Mariani

• Muthiah Bose

• Tiziana Lischetti

Postdoctoral researchers

• Jayashree Vijay Thatte

PhD students

• Joanna Vitfell-Rasmussen, Department of Oncology, Herlev Hospital

• Kevin Zi Ming Lim, Department of Oncology, Herlev Hospital

Research technicians

• Sofie Eriksen

Research assistant

• Enrique Gómez Castillo

• Olivera Stojkova
  

Master students 

• Benedikte Amalie A Birk-Sørensen
  

• Freja Pedersen

• Helena Hjerrild Hedberg

Key Collaborators

• Claus Storgaard Sørensen, Biotech Research & Innovation Centre, University of Copenhagen

• Bent Ejlertsen, Department of Oncology, Danish Breast Cancer Cooperative Group (DBCG), Rigshospitalet

• Andreas Røder, Department of Urology, Rigshospitalet

• Haico van Attikum, Leiden University Medical Center

• Kristoffer Rohrberg, Phase I Clinical Trials Unit, Department of Oncology, Rigshospitalet
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